Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523020A>C , CM000671.2:g.131523020A>C	GRCh38
NC_000009.11:g.134398407A>C , CM000671.1:g.134398407A>C	GRCh37
NC_000009.10:g.133388228A>C	NCBI36
NG_008896.1:g.25119A>C
NG_008896.2:g.25119A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1930A>C	ENSP00000343034.7:p.Thr644Pro
ENST00000404875.7:n.2632A>C
ENST00000423007.6:c.2149A>C	ENSP00000404119.2:p.Thr717Pro
ENST00000677295.2:c.*2436A>C	ENSP00000504346.2:n.*2436A>C
ENST00000678264.2:c.*2275A>C	ENSP00000503157.2:n.*2275A>C
ENST00000682070.1:n.2402A>C
ENST00000682639.1:c.89A>C
ENST00000682813.1:n.2489A>C
ENST00000683231.1:c.89A>C
ENST00000683392.1:n.4684A>C
ENST00000683712.1:n.2497A>C
ENST00000683900.1:n.3992A>C
ENST00000684062.1:n.2758A>C
ENST00000684399.1:c.89A>C
ENST00000684579.1:n.3938A>C
ENST00000341012.12:c.1930A>C	ENSP00000343034.7:p.Thr644Pro
ENST00000372220.5:c.961A>C	ENSP00000361294.5:p.Thr321Pro
ENST00000372228.9:c.2158A>C	ENSP00000361302.3:p.Thr720Pro
ENST00000402686.8:c.2092A>C MANE Select	ENSP00000385797.4:p.Thr698Pro
ENST00000676640.1:c.2092A>C	ENSP00000503281.1:p.Thr698Pro
ENST00000676803.1:c.1153A>C	ENSP00000503093.1:p.Thr385Pro
ENST00000676835.1:c.*1307A>C	ENSP00000502911.1:n.*1307A>C
ENST00000677029.1:c.1636A>C	ENSP00000502936.1:p.Thr546Pro
ENST00000677099.1:c.*1802A>C	ENSP00000504553.1:n.*1802A>C
ENST00000677216.1:c.1741A>C	ENSP00000503772.1:p.Thr581Pro
ENST00000677221.1:n.1117A>C
ENST00000677295.1:c.*1314A>C	ENSP00000504346.1:n.*1314A>C
ENST00000677444.1:c.2037A>C
ENST00000677586.1:n.1459A>C
ENST00000677626.1:c.1741A>C	ENSP00000503552.1:p.Thr581Pro
ENST00000677853.1:c.*1100A>C	ENSP00000503488.1:n.*1100A>C
ENST00000678264.1:c.*1469A>C	ENSP00000503157.1:n.*1469A>C
ENST00000678303.1:c.2002A>C	ENSP00000503696.1:p.Thr668Pro
ENST00000678366.1:c.*2341A>C	ENSP00000504353.1:n.*2341A>C
ENST00000678546.1:c.*2037A>C	ENSP00000503062.1:n.*2037A>C
ENST00000678548.1:c.*2231A>C	ENSP00000503934.1:n.*2231A>C
ENST00000678626.1:n.1928A>C
ENST00000678739.1:c.*2258A>C	ENSP00000503806.1:n.*2258A>C
ENST00000678833.1:c.*1844A>C	ENSP00000503893.1:n.*1844A>C
ENST00000679023.1:c.1930A>C	ENSP00000503718.1:p.Thr644Pro
ENST00000679076.1:c.1711A>C
ENST00000679111.1:c.*848A>C	ENSP00000504257.1:n.*848A>C
ENST00000679189.1:c.1741A>C	ENSP00000503356.1:p.Thr581Pro
ENST00000341012.11:c.1930A>C	ENSP00000343034.7:p.Thr644Pro
ENST00000372220.4:c.955A>C	ENSP00000361294.4:p.Thr319Pro
ENST00000372228.7:c.2158A>C	ENSP00000361302.3:p.Thr720Pro
ENST00000402686.7:c.2092A>C	ENSP00000385797.3:p.Thr698Pro
ENST00000404875.6:c.1741A>C	ENSP00000384531.2:p.Thr581Pro
ENST00000423007.5:c.2092A>C	ENSP00000404119.1:p.Thr698Pro
ENST00000485278.5:n.2642A>C
NM_001077365.1:c.2092A>C	NP_001070833.1:p.Thr698Pro
NM_001077366.1:c.1930A>C	NP_001070834.1:p.Thr644Pro
NM_001136113.1:c.2092A>C	NP_001129585.1:p.Thr698Pro
NM_001136114.1:c.1741A>C	NP_001129586.1:p.Thr581Pro
NM_007171.3:c.2158A>C	NP_009102.3:p.Thr720Pro
XM_005272156.1:c.2158A>C	XP_005272213.1:p.Thr720Pro
XM_005272158.1:c.1996A>C	XP_005272215.1:p.Thr666Pro
XM_005272159.1:c.1807A>C	XP_005272216.1:p.Thr603Pro
XM_005272162.1:c.961A>C	XP_005272219.1:p.Thr321Pro
XM_006716932.1:c.1807A>C	XP_006716995.1:p.Thr603Pro
XM_011518140.1:c.2011A>C	XP_011516442.1:p.Thr671Pro
XM_011518141.1:c.1945A>C	XP_011516443.1:p.Thr649Pro
XM_011518142.1:c.1849A>C	XP_011516444.1:p.Thr617Pro
XM_011518143.1:c.1843A>C	XP_011516445.1:p.Thr615Pro
XM_011518145.1:c.1702A>C	XP_011516447.1:p.Thr568Pro
XM_011518147.1:c.1030A>C	XP_011516449.1:p.Thr344Pro
XR_929703.1:n.2334A>C
NM_001353193.1:c.2158A>C	NP_001340122.1:p.Thr720Pro
NM_001353194.1:c.1930A>C	NP_001340123.1:p.Thr644Pro
NM_001353195.1:c.1741A>C	NP_001340124.1:p.Thr581Pro
NM_001353196.1:c.2002A>C	NP_001340125.1:p.Thr668Pro
NM_001353197.1:c.1996A>C	NP_001340126.1:p.Thr666Pro
NM_001353198.1:c.1996A>C	NP_001340127.1:p.Thr666Pro
NM_001353199.1:c.1807A>C	NP_001340128.1:p.Thr603Pro
NM_001353200.1:c.1636A>C	NP_001340129.1:p.Thr546Pro
NR_148391.1:n.2142A>C
NR_148392.1:n.2360A>C
NR_148393.1:n.2281A>C
NR_148394.1:n.2035A>C
NR_148395.1:n.2433A>C
NR_148396.1:n.2067A>C
NR_148397.1:n.2192A>C
NR_148398.1:n.2147A>C
NR_148399.1:n.2673A>C
NR_148400.1:n.2272A>C
XM_005272162.3:c.961A>C	XP_005272219.1:p.Thr321Pro
XM_006716932.2:c.1807A>C	XP_006716995.1:p.Thr603Pro
XM_011518140.2:c.2011A>C	XP_011516442.1:p.Thr671Pro
XM_011518141.2:c.1945A>C	XP_011516443.1:p.Thr649Pro
XM_011518142.2:c.1849A>C	XP_011516444.1:p.Thr617Pro
XM_011518143.2:c.1843A>C	XP_011516445.1:p.Thr615Pro
XM_011518145.2:c.1702A>C	XP_011516447.1:p.Thr568Pro
XM_017014205.2:c.961A>C	XP_016869694.1:p.Thr321Pro
XM_024447380.1:c.961A>C	XP_024303148.1:p.Thr321Pro
XM_024447381.1:c.1267A>C	XP_024303149.1:p.Thr423Pro
XM_024447382.1:c.961A>C	XP_024303150.1:p.Thr321Pro
XR_001746160.2:n.2262A>C
XR_001746162.2:n.2467A>C
XR_001746164.1:n.2184A>C
XR_001746166.2:n.2479A>C
NM_001077365.2:c.2092A>C MANE Select	NP_001070833.1:p.Thr698Pro
NM_001077366.2:c.1930A>C	NP_001070834.1:p.Thr644Pro
NM_001136113.2:c.2092A>C	NP_001129585.1:p.Thr698Pro
NM_001136114.2:c.1741A>C	NP_001129586.1:p.Thr581Pro
NM_001353193.2:c.2158A>C	NP_001340122.2:p.Thr720Pro
NM_001353194.2:c.1930A>C	NP_001340123.1:p.Thr644Pro
NM_001353195.2:c.1741A>C	NP_001340124.1:p.Thr581Pro
NM_001353196.2:c.2002A>C	NP_001340125.1:p.Thr668Pro
NM_001353197.2:c.1996A>C	NP_001340126.2:p.Thr666Pro
NM_001353198.2:c.1996A>C	NP_001340127.2:p.Thr666Pro
NM_001353199.2:c.1807A>C	NP_001340128.2:p.Thr603Pro
NM_001353200.2:c.1636A>C	NP_001340129.1:p.Thr546Pro
NM_001374689.1:c.2080A>C	NP_001361618.1:p.Thr694Pro
NM_001374690.1:c.1873A>C	NP_001361619.1:p.Thr625Pro
NM_001374691.1:c.1741A>C	NP_001361620.1:p.Thr581Pro
NM_001374692.1:c.1741A>C	NP_001361621.1:p.Thr581Pro
NM_001374693.1:c.1741A>C	NP_001361622.1:p.Thr581Pro
NM_001374695.1:c.1702A>C	NP_001361624.1:p.Thr568Pro
NM_007171.4:c.2158A>C	NP_009102.4:p.Thr720Pro
NR_148391.2:n.2126A>C
NR_148392.2:n.2344A>C
NR_148393.2:n.2265A>C
NR_148394.2:n.2019A>C
NR_148395.2:n.2417A>C
NR_148396.2:n.2051A>C
NR_148397.2:n.2176A>C
NR_148398.2:n.2131A>C
NR_148399.2:n.2657A>C
NR_148400.2:n.2256A>C

Linked Data

Genomic Alleles

Transcript Alleles